Canonical Allele Identifier: CA371446565
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576082C>A , CM000670.2:g.86576082C>A GRCh38
NC_000008.10:g.87588310C>A , CM000670.1:g.87588310C>A GRCh37
NC_000008.9:g.87657426C>A NCBI36
NG_016980.1:g.172594G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2152G>T MANE Select ENSP00000316605.5:p.Asp718Tyr
ENST00000681546.1:n.1972G>T
ENST00000681746.1:c.*563G>T ENSP00000505959.1:n.*563G>T
ENST00000320005.5:c.2152G>T ENSP00000316605.5:p.Asp718Tyr
ENST00000517327.5:c.276+2607G>T ENSP00000428329.1:n.276+2607G>T
NM_019098.4:c.2152G>T NP_061971.3:p.Asp718Tyr
XM_011517138.1:c.1738G>T XP_011515440.1:p.Asp580Tyr
XM_011517138.2:c.1738G>T XP_011515440.1:p.Asp580Tyr
NM_019098.5:c.2152G>T MANE Select NP_061971.3:p.Asp718Tyr